This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The objective of this research is the definition of new inborn errors of metabolism, the discovery of their fundamental molecular defects and the elucidation of metabolic abnormalities relevant to the development of therapy.